VCL - vinculin Gene

Also Known as MV; MVCL; CMD1W; CMH15; HEL114

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7414

About VCL

Cytogenetic location: 10q22.2 Genomic coordinates (GRCh38): 10:73,998,116-74,121,363 (from NCBI)

This gene has 7 transcripts (splice variants), 284 orthologues, 4 paralogues and is associated with 4 phenotypes. Ubiquitous expression in endometrium (RPKM 87.7), prostate (RPKM 70.2) and 25 other tissues.

Summary

Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

VCL Products (2)

mRNA Protein Name
NM_003373.4 NP_003364.1 vinculin isoform VCL
NM_014000.3 NP_054706.1 vinculin isoform meta-VCL

VCL Protein Structure

Vinculin

Vinculin: Vinculin family (3 - 483)

Vinculin

Vinculin: Vinculin family (487 - 915)

Vinculin

Vinculin: Vinculin family (931 - 1134)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1134 a.a.
Protein Preferred Names Protein Names

vinculin

  • epididymis luminal protein 114

VCL Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
VCL P18206 TEKT1 Homo sapiens Q969V4 25416956
Intra
VCL P18206 ARPC2 Homo sapiens O15144 12473693
Cross
VCL P18206 ipaA Shigella flexneri Q6XVZ2 16826238
Cross
VCL P18206 ipaA Shigella flexneri Q6XVZ2
GMS
16826238
Intra
VCL P18206 ABI2 Homo sapiens Q9NYB9 16189514
Intra
VCL P18206 ABI2 Homo sapiens Q9NYB9 29892012
Cross
VCL P18206 ipaA Shigella flexneri P18010 17932491
Cross
VCL P18206 ipaA Shigella flexneri P18010 21525010
Cross
VCL P18206 ipaA Shigella flexneri P18010 21525010
Cross
VCL P18206 b0bxr4_ricro Rickettsia rickettsii B0BXR4 21841197
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant VCL Proteins

Cat. No. Product Name Accession Purity
HY-P70994 Vinculin Protein, Human AAH39174.1 (P2-Q1066) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P71693 Vinculin Protein, Human (GST) P18206 (P2-E235) ≥ 90%, as determined by reducing SDS-PAGE.
HY-P73550 Vinculin Protein, Human (HEK293, His) P18206-2 (M1-Q1066) ≥ 90%, as determined by reducing SDS-PAGE.

VCL Antibodies

Cat. No. Product Name Application Reactivity
HY-P80372 Vinculin Antibody (YA010) WB, IHC-P, ICC/IF Human, Mouse, Rat
HY-P85789 Vinculin Antibody (YA5481) IHC-P, ICC/IF, ELISA Human, Mouse, Rat
HY-P85825 Vinculin Antibody (YA5517) WB, ICC/IF, ELISA Human, Mouse, Rat
HY-P86205 Vinculin Antibody (YA5897) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
Cardiomyopathy, Familial Hypertrophic, 15
  • Hypertrophic Cardiomyopathy 15

  • CMH15

  • Cardiomyopathy, Hypertrophic, 15

  • Cardiomyopathy Familial Hypertrophic 15

  • Cardiomyopathy, Familial Hypertrophic 15

  • Cardiomyopathy, Hypertrophic, Familial, Type 15

Cardiomyopathy, Dilated, 1w
  • CMD1W

  • Dilated Cardiomyopathy 1w

  • Cardiomyopathy, Dilated 1w

  • Cardiomyopathy, Dilated, Type 1w

Familial Isolated Dilated Cardiomyopathy
  • Familial Or Idiopathic Dilated Cardiomyopathy

Dilated Cardiomyopathy
  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy

Congestive Heart Failure
  • Congestive Heart Disease

  • Heart Failure

  • Cardiac Failure Congestive

  • Chf

  • Weak Heart

  • Heart Failure Congestive

  • Ccf - [Congestive Cardiac Failure]

  • Chf - [Congestive Heart Failure]

  • Congestive Cardiac Diseases

  • Congested Heart Failure

  • Congestive Cardiac Failure

  • Cardiac Anasarca

  • Cardiac Oedema

  • Cardiac Stasis

  • Cardiovascular Oedema

  • Cardiac Hydrops

  • Congestive Failure

  • Heart Congestion

  • Heart Fluid

  • Oedematous Heart

Quebec Platelet Disorder
  • Factor V Quebec

  • QPD

  • Bdplt5

  • Bleeding Disorder, Platelet-Type, 5

  • Platelet-Type Bleeding Disorder 5

  • Bleeding Disorder Platelet-Type 5

  • Platelet Disorder, Quebec

Muscular Dystrophy, Becker Type
  • Becker Muscular Dystrophy

  • BMD

  • Benign Pseudohypertrophic Muscular Dystrophy

  • Benign Congenital Myopathy

  • Becker Dystrophinopathy

  • Becker'S Muscular Dystrophy

  • Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type

  • Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type

  • Muscular Dystrophy Becker

  • Dystrophy, Muscular, Becker Type

  • Dystrophinopathy

  • Becker Dystrophy

  • Becker Type Dystrophy

  • Bmd - [Becker Muscular Dystrophy]

Shigellosis
  • Dysentery, Bacillary

  • Bacillary Dysentery

  • Shigella Boydii Infectious Disease

  • Shigella Flexneri Infectious Disease

  • Shigella Gastroenteritis

  • Shigella Sonnei Infectious Disease

  • Shigella Infections

Darier-White Disease
  • Keratosis Follicularis

  • Darier Disease

  • Darier'S Disease

  • DAR

  • DD

  • Darier White Disease

  • Darier Disease Acral Hemorrhagic Type

  • Darier Disease Segmental

  • Darier Disease, Acral Hemorrhagic Type

  • Darier Disease, Segmental

Xanthomatosis
  • Xanthomatosis, Susceptibility To

  • Xanthelasmatosis

Neural Tube Defects
  • Spina Bifida

  • Neural Tube Defect

  • NTD

  • Neural Tube Defects, Susceptibility To

  • Spinal Dysraphism

  • Spina Bifida, Susceptibility To

  • Rachischisis

  • Cleft Spine

  • Open Spine

  • Hydrocele Spinalis

  • Neural Tube Defect Nos

  • Sb - [Spina Bifida]

  • Spinal Hernia Nos

  • Spinal Fissure Nos

Focal Segmental Glomerulosclerosis
  • Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

  • Focal Glomerulosclerosis

  • Fsgs

  • Segmental Glomerulosclerosis

  • Glomerulosclerosis, Focal Segmental

  • Fgs

  • Focal Glomerular Sclerosis

  • Familial Idiopathic Nephrotic Syndrome

  • Focal Sclerosis With Hyalinosis

  • Glomerulosclerosis, Focal

  • Glomerulosclerosis Focal

  • Glomerulosclerosis, Segmental, Focal

  • Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Melanoma
  • Malignant Melanoma

  • Cutaneous Melanoma

  • Naevocarcinoma

  • Malignant Melanomas

Developmental And Epileptic Encephalopathy 38
  • DEE38

  • Epileptic Encephalopathy, Early Infantile, 38

  • Eiee38

  • Developmental And Epileptic Encephalopathy, 38

  • Glycosylphosphatidylinositol Biosynthesis Defect 23

  • Gpibd23

  • Early Infantile Epileptic Encephalopathy 38

Muscular Dystrophy
  • Muscular Dystrophies

  • Congenital Md

  • Congenital Muscular Dystrophy

  • Cmd

  • Mdc

  • Dystrophy, Muscular

  • Gower'S Muscular Dystrophy

  • Progressive Musclular Dystrophy

  • Pseudohypertrophic Atrophy

  • Pseudohypertrophic Muscle Paralysis

  • Pseudohypertrophic Muscular Atrophy

  • Pseudohypertrophic Muscular Dystrophy

  • Pseudohypertrophic Paralysis

  • Pseudomuscular Hypertrophy

Muscular Dystrophy, Duchenne Type
  • Duchenne Muscular Dystrophy

  • DMD

  • Muscular Dystrophy, Duchenne

  • Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type

  • Severe Dystrophinopathy, Duchenne Type

  • Muscular Dystrophy Duchenne

  • Dystrophy, Muscular, Duchenne Type

  • Benign Duchenne Muscular Dystrophy

  • Duchenne Motor Neuron Disease

  • Duchenne Type Dystrophy

  • Duchenne-Griesinger Disease

Colon Adenocarcinoma
  • Adenocarcinoma Of Colon

  • Adenocarcinoma Of The Colon

  • Colonic Adenocarcinoma

Parameningeal Embryonal Rhabdomyosarcoma
Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

Junctional Epidermolysis Bullosa
  • Epidermolysis Bullosa, Junctional

  • Jeb

  • Epidermolysis Bullosa Atrophicans

  • Congenital Junctional Epidermolysis Bullosa

  • Epidermolysis Bullosa Junctional

  • Junctional Eb - [Epidermolysis Bullosa]

  • Jeb - [Junctional Epidermolysis Bullosa]

  • Lucidolytic Epidermolysis Bullosa

Hypertrophic Cardiomyopathy
  • Hypertrophic Obstructive Cardiomyopathy

  • Cardiomyopathy, Hypertrophic

  • Cardiomyopathy Hypertrophic Obstructive

  • Cardiomyopathy, Hypertrophic, Familial

  • Idiopathic Myocardial Hypertrophy

  • Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Cardiomyopathy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Muscular Subaortic Stenosis

  • Hypertrophic Obstructive Subaortic Stenosis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta VCL VGNC VGNC:106118
Felis catus VCL VGNC VGNC:66932
Canis familiaris VCL VGNC VGNC:48242
Bos taurus VCL VGNC VGNC:36779
Rattus norvegicus VCL RGD RGD:1311217
Mus musculus VCL MGD MGI:98927
Others VCL NCBI